Linked Data
dbSNP Id:
rs1554246007
ExAC:
6:170871097 G / GCAGCAA
gnomAD v2:
6-170871097-G-GCAGCAA
gnomAD v4:
6-170562009-G-GCAGCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.170562014_170562015insACAGCA , CM000668.2:g.170562014_170562015insACAGCA | GRCh38 |
| NC_000006.11:g.170871102_170871103insACAGCA , CM000668.1:g.170871102_170871103insACAGCA | GRCh37 |
| NC_000006.10:g.170713027_170713028insACAGCA | NCBI36 |
| NG_008165.1:g.12632_12633insACAGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392092.7:c.278_279insACAGCA MANE Select | ENSP00000375942.2:p.Gln93_Gln94insGlnGln | |
| ENST00000636632.1:c.278_279insACAGCA | ENSP00000490461.1:p.Gln93_Gln94insGlnGln | |
| ENST00000230354.10:c.278_279insACAGCA | ENSP00000230354.5:p.Gln93_Gln94insGlnGln | |
| ENST00000392092.6:c.278_279insACAGCA | ENSP00000375942.2:p.Gln93_Gln94insGlnGln | |
| ENST00000421512.5:c.278_279insACAGCA | ENSP00000400008.1:p.Gln93_Gln94insGlnGln | |
| ENST00000423353.1:c.278_279insACAGCA | ENSP00000416482.1:p.Gln93_Gln94insGlnGln | |
| ENST00000540980.5:c.218_219insACAGCA | ENSP00000442132.1:p.Gln73_Gln74insGlnGln | |
| ENST00000616883.4:c.175-50_175-49insACAGCA | ENSP00000484118.1:n.175-50_175-49insACAGCA | |
| NM_001172085.1:c.218_219insACAGCA | NP_001165556.1:p.Gln73_Gln74insGlnGln | |
| NM_003194.4:c.278_279insACAGCA | NP_003185.1:p.Gln93_Gln94insGlnGln | |
| NM_003194.5:c.278_279insACAGCA MANE Select | NP_003185.1:p.Gln93_Gln94insGlnGln | |
| NM_001172085.2:c.218_219insACAGCA | NP_001165556.1:p.Gln73_Gln74insGlnGln |